KLHL24 and hyperinsulinemic hypoglycemia, familial, 4: For example, muscular dystrophy can occur in EB simplex caused by plectin deficiency; pyloric atresia is seen in EB simplex with plectin deficiency and junctional EB with integrin α6β4 deficiency; cardiomyopathy is associated with KLHL24 or PLEC gene variants in EB simplex and with DSP and JUP variants in skin fragility disorders; lung fibrosis and nephrotic syndrome arise in junctional EB with integrin α3 subunit deficiency; connective tissue abnormalities occur with PLOD3 mutations; and nephrotic syndrome is seen with CD151 deficiency (Table 3).